t(12;13)(q14;q31) leading to HMGA2 upregulation in acute myeloid leukaemia

摘要

The high mobility group A (HMGA) family of genes, including HMGA2 (formerly HMGI-C) on the long arm of chromosome 12, encodes four different chromatin binding proteins (Fusco & Fedele, 2007). HMGA2 is best known for its pathogenetic involvement in benign mesenchymal tumours, such as lipomas (Fusco 8c Fedele, 2007), with chromosomal rearrangements of 12ql3-15 and has been extensively studied in that context. The Mitehnan database (Mitelman et al, 2012) reports that 12ql3-15 rearrangements are found also in 200 cases of acute myeloid leukaemia (AML). However, molecular investigations of haematological malignancies showing involvement of HMGA2 through various translocations are limited to 14 cases (Kottickal et al, 1998; Storlazzi et al, 2006; Aliano et al, 2007; Mitehnan et al, 2012). We present a case of AML with a novel balanced t(12;13)(q14;q31) as the only cytogenetic aberration. The translocation gave rise to a truncated HMGA2 transcript.